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Non-random chromosomal deletion clustering at 20q in Waldenstrom macroglobulinemia.

机译:Waldenstrom巨球蛋白血症在20q处的非随机染色体缺失聚类。

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摘要

Chromosome change at 20q11-q12, including del(20q), is sometimes reported in plasma cell dyscrasia, but most cases are found during or after chemotherapy. It is therefore still uncertain whether del(20q) is a primary change or therapy-related. We performed cytogenetic studies and fluorescent in situ hybridization (FISH) analysis using 20q12 and 20qter probes to ascertain the possible involvement of 20q in nine patients with Waldenstrom macroglobulinemia (WM). The FISH study demonstrated deletions of 20q12 and/or 20qter in four of nine patients (44%) with WM at diagnosis, and one of them had the del(20q) chromosome. Moreover, one patient had de novo appearance of the del(20q) chromosome with 20q12 deletion after chemotherapy, although this patient had neither the del(20q) chromosome nor 20q12 deletion at WM diagnosis. Based on the results of this study, we conclude that chromosomal breakage at 20q13 is a non-random genetic change which plays a role in the neoplastic process of WM.
机译:有时在浆细胞发育不良中报告20q11-q12处的染色体变化,包括del(20q),但大多数情况是在化疗期间或之后发现的。因此,仍然不确定del(20q)是主要变化还是与治疗有关。我们使用20q12和20qter探针进行了细胞遗传学研究和荧光原位杂交(FISH)分析,以确定20q可能参与9名Waldenstrom巨球蛋白血症(WM)患者。 FISH研究表明,在确诊的9例WM患者中,有4例(44%)有20q12和/或20qter缺失,其中1例具有del(20q)染色体。此外,一名患者在化疗后从头出现了del(20q)染色体从头出现,缺失20q12,尽管该患者在WM诊断中既没有del(20q)染色体也没有20q12缺失。根据这项研究的结果,我们得出结论,在20q13处的染色体断裂是一种非随机的遗传变化,在WM的肿瘤形成过程中起作用。

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